keyword
MENU ▼
Read by QxMD icon Read
search

developmental genes

keyword
https://www.readbyqxmd.com/read/28735299/identification-of-the-first-dominant-mutation-of-lama5-gene-causing-a-complex-multisystem-syndrome-due-to-dysfunction-of-the-extracellular-matrix
#1
Simone Sampaolo, Filomena Napolitano, Alfonsina Tirozzi, Mafalda Giovanna Reccia, Luca Lombardi, Olimpia Farina, Adriano Barra, Ferdinando Cirillo, Mariarosa Anna Beatrice Melone, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito
BACKGROUND: The laminin alpha 5 gene (LAMA5) plays a master role in the maintenance and function of the extracellular matrix (ECM) in mammalian tissues, which is critical in developmental patterning, stem cell niches, cancer and genetic diseases. Its mutations have never been reported in human disease so far. The aim of this study was to associate the first mutation in LAMA5 gene to a novel multisystem syndrome. METHODS: A detailed characterisation of a three-generation family, including clinical, biochemical, instrumental and morphological analysis, together with genetics and expression (WES and RNAseq) studies, was performed...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28735023/arabidopsis-wrky45-interacts-with-the-della-protein-rgl1-to-positively-regulate-age-triggered-leaf-senescence
#2
Ligang Chen, Shengyuan Xiang, Yanli Chen, Daibo Li, Diqiu Yu
Leaf senescence can be triggered and promoted by various environmental stressors, developmental cues, and endogenous hormone signals. Several lines of evidence have suggested the involvement of WRKY transcription factors in the regulation of leaf senescence, but the related signaling pathways and physiological mechanisms remain unclear. In the current study, we initially identified Arabidopsis thaliana WRKY DNA binding protein 45 (WRKY45) as a positive regulator of age-triggered leaf senescence. Mutation of WRKY45 resulted in enhanced leaf longevity in age-triggered senescence, whereas overexpression of WRKY45 significantly accelerated age-triggered leaf senescence...
July 19, 2017: Molecular Plant
https://www.readbyqxmd.com/read/28734986/exogenous-hedgehog-antagonist-delays-but-does-not-prevent-fracture-healing-in-young-mice
#3
Xiaochen Liu, Jennifer A McKenzie, Clayton W Maschhoff, Michael J Gardner, Matthew J Silva
Fracture healing recapitulates many aspects of developmental osteogenesis. The hedgehog (Hh) signaling pathway, essential to skeletal development, is upregulated during fracture healing, although its importance is unclear. Our goal was to assess the functional importance of Hh signaling in endochondral fracture healing. We created closed, transverse diaphyseal femur fractures in mice, stabilized with an intramedullary pin, and administered a systemic Hh inhibitor or vehicle. Because Hh pathway activation is mediated by the receptor Smoothened (Smo), we used the Smo antagonist GDC-0449 (GDC, 50mg/kg, twice daily) to target the pathway...
July 19, 2017: Bone
https://www.readbyqxmd.com/read/28734734/nuclear-pore-complexes-a-scaffold-regulating-developmental-transcription
#4
Atsushi Satomura, Jason H Brickner
Nuclear pore complexes (NPCs) have a conserved, but poorly understood, role in transcriptional regulation. Recently, in Developmental Cell, Raices et al. argued that tissue-specific nuclear pore proteins (Nups) act as scaffolds that recruit the transcription factor Mef2C to the NPC, promoting transcription of NPC-associated genes during muscle development.
July 19, 2017: Trends in Cell Biology
https://www.readbyqxmd.com/read/28734548/ubiquitin-like-modifications-in-the-dna-damage-response
#5
REVIEW
Zhifeng Wang, Wei-Guo Zhu, Xingzhi Xu
Genomic DNA is damaged at an extremely high frequency by both endogenous and environmental factors. An improper response to DNA damage can lead to genome instability, accelerate the aging process and ultimately cause various human diseases, including cancers and neurodegenerative disorders. The mechanisms that underlie the cellular DNA damage response (DDR) are complex and are regulated at many levels, including at the level of post-translational modification (PTM). Since the discovery of ubiquitin in 1975 and ubiquitylation as a form of PTM in the early 1980s, a number of ubiquitin-like modifiers (UBLs) have been identified, including small ubiquitin-like modifiers (SUMOs), neural precursor cell expressed, developmentally down-regulated 8 (NEDD8), interferon-stimulated gene 15 (ISG15), human leukocyte antigen (HLA)-F adjacent transcript 10 (FAT10), ubiquitin-fold modifier 1 (UFRM1), URM1 ubiquitin-related modifier-1 (URM1), autophagy-related protein 12 (ATG12), autophagy-related protein 8 (ATG8), fan ubiquitin-like protein 1 (FUB1) and histone mono-ubiquitylation 1 (HUB1)...
July 11, 2017: Mutation Research
https://www.readbyqxmd.com/read/28733979/novel-clinical-and-molecular-findings-in-spanish-patients-with-nevoid-basal-cell-carcinoma-syndrome
#6
N Alonso, J Cañueto, S Ciria, E Bueno, I Palacios-Alvarez, M Alegre, C Badenas, A Barreiro, L Pena, C Maldonado, M V Nespeira-Jato, C Peña-Penabad, A Azon, M Gavrilova, I Ferrer, O Sanmartin, L Robles, A Hernandez, M Urioste, S Puig, L Puig, R Gonzalez-Sarmiento
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, a membrane receptor for Sonic Hedgehog, are associated with the development of the disease. Most of them produce a truncated protein which is unable to supress Smoothened protein and continuously activates the downstream pathway OBJECTIVES: We aimed to characterize 22 unrelated Spanish subjects with NBCCS, the largest cohort of Gorlin syndrome reported to date in Spain METHODS AND RESULTS: We reported for the first time two young patients with uterus didelphys and ganglioneuroma, within the context of NBCCS...
July 22, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28733389/cytokinin-biosynthesis-promotes-cortical-cell-responses-during-nodule-development
#7
Dugald Elgin Reid, Marcin Nadzieja, Ondrej Novak, Anne Birgitte Heckmann, Niels Sandal, Jens Stougaard
Legume mutants have shown the requirement for receptor-mediated cytokinin signalling in symbiotic nodule organogenesis. While the receptors are central regulators, cytokinin is also accumulated during early phases of symbiotic interaction but the pathways involved have not yet been fully resolved. To identify the source, timing and effect of this accumulation, we followed transcript levels of the cytokinin biosynthetic pathway genes in a sliding developmental zone of Lotus japonicus roots. LjIpt2 and LjLog4 were identified as the major contributors to the first cytokinin burst...
July 21, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28733351/multi-cellular-transcriptional-analysis-of-mammalian-heart-regeneration
#8
Gregory A Quaife-Ryan, Choon Boon Sim, Mark Ziemann, Antony Kaspi, Haloom Rafehi, Mirana Ramialison, Assam El-Osta, James E Hudson, Enzo R Porrello
Background -The inability of the adult mammalian heart to regenerate following injury represents a major barrier in cardiovascular medicine. In contrast, the neonatal mammalian heart retains a transient capacity for regeneration, which is lost shortly after birth. Defining the molecular mechanisms that govern regenerative capacity in the neonatal period remains a central goal in cardiac biology. Here, we assemble a transcriptomic framework of multiple cardiac cell populations during postnatal development and following injury, which enables comparative analyses of the regenerative (neonatal) versus non-regenerative (adult) state for the first time...
July 21, 2017: Circulation
https://www.readbyqxmd.com/read/28733345/genes-of-cellular-components-of-morphogenesis-in-porcine-oocytes-before-and-after-ivm
#9
Joanna Budna, Artur Bryja, Piotr Celichowski, Rotem Kahan, Wiesława Kranc, Sylwia Ciesiółka, Marta Rybska, Sylwia Borys, Michal Jeseta, Dorota Bukowska, Paweł Antosik, Klaus Peter Brüssow, Małgorzata Bruska, Michał Nowicki, Maciej Zabel, Bartosz Kempisty
Proper oocyte maturation in mammals produces an oocyte capable of monospermic fertilization and embryo preimplantation. The cumulus-oocyte complexes (COCs), surrounding an oocyte, play a significant role in oocyte maturation. During this process, when the COCs undergo cumulus expansion wherein tightly compact cumulus cells (CCs) form a dispersed structure, permanent biochemical and molecular modifications occur in the maturing oocytes, indicating the gene expression between immature and mature oocytes differs significantly...
July 21, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28733163/rnai-mediated-knockdown-of-spook-reduces-ecdysteroid-titers-and-causes-precocious-metamorphosis-in-the-desert-locust-schistocerca-gregaria
#10
Ryohei Sugahara, Seiji Tanaka, Takahiro Shiotsuki
The Halloween gene SPOOK (SPO) is involved in the production of the active metabolite of ecdysteroid, 20-hydroxyecdysone (20E), in insects. A previous study showed that RNAi-mediated knockdown of SPO in Schistocerca gregaria last instar nymphs markedly reduced the hemolymph 20E titer, but did not affect metamorphosis. In the present study, the effects of SPO interference on development were re-examined in this locust. Injections of SPO double-stranded RNA (dsSPO) into nymphs at mid and late instars significantly delayed nymphal development and interfered with molting...
July 18, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28732075/comprehensive-selection-of-reference-genes-for-quantitative-rt-pcr-analysis-of-murine-extramedullary-hematopoiesis-during-development
#11
Giuliana Medrano, Peihong Guan, Amanda J Barlow-Anacker, Ankush Gosain
The purpose of this study was to perform a comprehensive evaluation and selection of reference genes for the study of extramedullary hematopoiesis during development and the early post-natal period. A total of six candidate reference genes (ACTB, GAPDH, HPRT1, PPID, TBP, TUBB3) in four organs (heart, liver, spleen, and thymus) over five perinatal time points (Embryonic days 14.5, 16.5, 18.5, Post-natal days 0, 21) were evaluated by quantitative real-time PCR. The expression stability of the candidate reference genes were analyzed using geNorm, NormFinder, Bestkeeper, Delta CT method, and RefFinder software packages...
2017: PloS One
https://www.readbyqxmd.com/read/28730556/stem-cell-derived-retinal-pigment-epithelium-the-role-of-pigmentation-as-maturation-marker-and-gene-expression-profile-comparison-with-human-endogenous-retinal-pigment-epithelium
#12
A Bennis, J G Jacobs, L A E Catsburg, J B Ten Brink, C Koster, R O Schlingemann, J van Meurs, T G M F Gorgels, P D Moerland, V M Heine, A A Bergen
In age-related macular degeneration (AMD) the retinal pigment epithelium (RPE) deteriorates, leading to photoreceptor decay and severe vision loss. New therapeutic strategies aim at RPE replacement by transplantation of pluripotent stem cell (PSC)-derived RPE. Several protocols to generate RPE have been developed where appearance of pigmentation is commonly used as indicator of RPE differentiation and maturation. It is, however, unclear how different pigmentation stages reflect developmental stages and functionality of PSC-derived RPE cells...
July 21, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28730342/transcriptome-analysis-of-three-cotton-pests-reveals-features-of-gene-expressions-in-the-mesophyll-feeder-apolygus-lucorum
#13
Dianyang Chen, Fangyan Chen, Chunyu Chen, Xiaoya Chen, Yingbo Mao
The green mirid bug Apolygus lucorum is an agricultural pest that is known to cause damage to more than 150 plant species. Here, we report the transcriptomes of A. lucorum at three different developmental stages (the second and fifth instar nymphs and adults). A total of 98,236 unigenes with an average length of 1,335 nt was obtained, of which 50,640 were annotated, including those encoding digestive enzymes and cytochrome P450s. Comparisons with cotton bollworm and cotton aphid transcriptomes revealed distinct features of A...
July 18, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28729899/evolutionary-loss-of-melanogenesis-in-the-tunicate-molgula-occulta
#14
Claudia Racioppi, Maria Carmen Valoroso, Ugo Coppola, Elijah K Lowe, C Titus Brown, Billie J Swalla, Lionel Christiaen, Alberto Stolfi, Filomena Ristoratore
BACKGROUND: Analyzing close species with diverse developmental modes is instrumental for investigating the evolutionary significance of physiological, anatomical and behavioral features at a molecular level. Many examples of trait loss are known in metazoan populations living in dark environments. Tunicates are the closest living relatives of vertebrates and typically present a lifecycle with distinct motile larval and sessile adult stages. The nervous system of the motile larva contains melanized cells associated with geotactic and light-sensing organs...
2017: EvoDevo
https://www.readbyqxmd.com/read/28729614/knockdown-of-two-cadherin-genes-confers-resistance-to-cry2a-and-cry1c-in-chilo-suppressalis
#15
Zan Zhang, Xiaolu Teng, Weihua Ma, Fei Li
Bacillus thuringiensis (Bt) Cry toxins play an important role in the management of insect pests. Resistance to Bt toxins has been reported in many pest insects but the mechanism responsible for this resistance in rice crop pests remains largely unknown. Cadherin is one of several Bt toxin receptors. At present, only one cadherin gene, CsCAD1, has been documented in the striped rice stem borer, Chilo suppressalis. We amplified a nearly full-length transcript of another C. suppressalis cadherin gene, CsCAD2, and found that it has a different expression pattern to CsCAD1...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729527/comparative-transcriptome-analysis-of-the-floral-transition-in-rosa-chinensis-old-blush-and-r-odorata-var-gigantea
#16
Xuelian Guo, Chao Yu, Le Luo, Huihua Wan, Yushu Li, Jia Wang, Tangren Cheng, Huitang Pan, Qixiang Zhang
The floral transition is a crucial developmental event, but little is known about the underlying regulatory networks in seasonally and continuously flowering roses. In this study, we compared the genetic basis of flowering in two rose species, Rosa chinensis 'Old Blush', which flowers continuously, and R. odorata var. gigantea, which blooms in early spring. Gene ontology (GO) terms related to methylation, light reaction, and starch metabolism were enriched in R. odorata var. gigantea and terms associated with sugar metabolism were enriched in R...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729483/epigenetic-plasticity-and-the-hallmarks-of-cancer
#17
REVIEW
William A Flavahan, Elizabeth Gaskell, Bradley E Bernstein
Chromatin and associated epigenetic mechanisms stabilize gene expression and cellular states while also facilitating appropriate responses to developmental or environmental cues. Genetic, environmental, or metabolic insults can induce overly restrictive or overly permissive epigenetic landscapes that contribute to pathogenesis of cancer and other diseases. Restrictive chromatin states may prevent appropriate induction of tumor suppressor programs or block differentiation. By contrast, permissive or "plastic" states may allow stochastic oncogene activation or nonphysiologic cell fate transitions...
July 21, 2017: Science
https://www.readbyqxmd.com/read/28729373/the-importance-of-managing-the-patient-and-not-the-gene-expanded-phenotype-of-gle1-associated-arthrogryposis
#18
Queenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, Kathryn E Gustafson, Carolyn E Pizoli, Anne F Buckley, Yong-Hui Jiang
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome (LCCS1) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD); phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal symptoms and perinatal lethality. In this paper, we identified bi-allelic missense mutations in GLE1 by trio whole exome sequencing (WES) in an individual affected with congenital motor weakness and contractures as well as feeding and respiratory difficulties...
July 20, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28728838/kcnq2-encephalopathy-a-case-due-to-a-de-novo-deletion
#19
Carlotta Spagnoli, Grazia Gabriella Salerno, Alessandro Iodice, Daniele Frattini, Francesco Pisani, Carlo Fusco
KCNQ2 encephalopathy is characterized by severely abnormal EEG, neonatal-onset epilepsy and developmental delay. It is caused by mutations (typically missense) in the KCNQ2 gene, encoding the voltage gated potassium channel Kv7.2 and leading to a negative-dominant effect. We present one case experiencing recurrent neonatal seizures with changing hemispheres of origin, reminiscent of epilepsy of infancy with migrating focal seizures. At 9months of age the patient is still seizure-free on carbamazepine, although he is developing a spastic-dystonic tetraplegia with severe dysphagia...
July 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/28728758/large-genetic-study-uncovers-14-new-genes-responsible-for-developmental-disorders-in-children
#20
Deborah L McBride
The exomes of 4293 families with individuals with undiagnosed developmental disorders were sequenced to identify de novo mutations. The researchers identified 14 new genetic disorders.
July 2017: Journal of Pediatric Nursing
keyword
keyword
111094
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"